AutismKB 2.0

Annotation Detail for EDF1


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Basic Information Top
Gene Symbol:EDF1 ( EDF-1,MBF1,MGC9058 )
Gene Full Name: endothelial differentiation-related factor 1
Band: 9q34.3
Quick LinksEntrez ID:8721; OMIM: 605107; Uniprot ID:EDF1_HUMAN; ENSEMBL ID: ENSG00000107223; HGNC ID: 3164
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body8 / 70761113
blastocyst2 / 6231932
fetus35 / 56401262
neonate4 / 31097128
infant1 / 2362042
juvenile1 / 5555617
adult181 / 193912193
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor10 / 94178106
cervical tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor8 / 26384530
glioma6 / 10688356
head and neck tumor15 / 136302110
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor11 / 103127106
lymphoma6 / 7175583
non-neoplasia2 / 9725020
normal203 / 336030760
ovarian tumor4 / 7668252
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer24 / 102680233
retinoblastoma3 / 4635664
skin tumor15 / 124949120
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow3 / 4880161
brain76 / 110098969
cervix3 / 4817162
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye18 / 21105485
heart11 / 89626122
intestine13 / 23447255
kidney13 / 21177761
larynx5 / 24145207
liver7 / 20774333
lung27 / 33697480
lymph2 / 4427045
lymph node9 / 9161098
mammary gland12 / 15327178
mouth3 / 6705244
muscle13 / 107715120
nerve0 / 157680 
ovary5 / 10205148
pancreas30 / 214812139
parathyroid1 / 2053948
pharynx6 / 41328145
pituitary gland3 / 16585180
placenta7 / 28082524
prostate52 / 189345274
salivary gland2 / 2015599
skin17 / 21057480
spleen0 / 539520 
stomach6 / 9661962
testis5 / 33044215
thymus0 / 811310 
thyroid4 / 4747384
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord4 / 13680292
uterus17 / 23287872
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209059_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts831.8
Adipocyte237.6
AdrenalCortex269.65
Adrenalgland173.5
Amygdala369.35
Appendix170.15
AtrioventricularNode106.6
BDCA4+_DentriticCells896.55
Bonemarrow157.15
BronchialEpithelialCells395.85
CD105+_Endothelial473.65
CD14+_Monocytes828.1
CD19+_BCells(neg._sel.)781.4
CD33+_Myeloid444.35
CD34+644
CD4+_Tcells839.75
CD56+_NKCells802.45
CD71+_EarlyErythroid313.55
CD8+_Tcells797.95
CardiacMyocytes527.2
Caudatenucleus187.65
Cerebellum206.3
CerebellumPeduncles521.05
CiliaryGanglion96.15
CingulateCortex220
Colorectaladenocarcinoma476.65
DorsalRootGanglion112.3
FetalThyroid524.45
Fetalbrain219.6
Fetalliver142.2
Fetallung382.2
GlobusPallidus138.7
Heart485.2
Hypothalamus592.1
Kidney166.45
Leukemia_chronicMyelogenousK-562248.6
Leukemia_promyelocytic-HL-60199.2
Leukemialymphoblastic(MOLT-4)327.3
Liver656.4
Lung447.5
Lymphnode285.35
Lymphoma_burkitts(Daudi)334.1
Lymphoma_burkitts(Raji)440.85
MedullaOblongata192.3
OccipitalLobe199.85
OlfactoryBulb201.6
Ovary223.05
Pancreas333.85
PancreaticIslet529
ParietalLobe235.35
Pituitary354.4
Placenta326
Pons170.9
PrefrontalCortex446.25
Prostate1038.5
Salivarygland289.45
SkeletalMuscle183.55
Skin153.9
SmoothMuscle619.85
Spinalcord303.9
SubthalamicNucleus184.65
SuperiorCervicalGanglion81
TemporalLobe206.4
Testis252.25
TestisGermCell218.95
TestisIntersitial165.6
TestisLeydigCell149.45
TestisSeminiferousTubule180.8
Thalamus366.55
Thymus364.75
Thyroid759.1
Tongue289.95
Tonsil264.6
Trachea165.2
TrigeminalGanglion78.95
Uterus448.5
UterusCorpus218.2
WholeBlood247.65
Wholebrain770.8
colon340.6
pineal_day613.5
pineal_night535.48
retina353.45
small_intestine629.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5644_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala8.8 ± 0.27
Basal Forebrain8.63 ± 0.26
Basal Part of Pons9.02 ± 0.43
Cerebellar Cortex8.99 ± 0.24
Cerebellar Nuclei8.78 ± 0.38
Claustrum8.4 ± 0.39
Epithalamus8.6 ± 0.33
Frontal Lobe8.84 ± 0.3
Globus Pallidus8.41 ± 0.23
Hypothalamus9 ± 0.4
Insula8.85 ± 0.23
Limbic Lobe8.61 ± 0.4
Mesencephalon8.62 ± 0.3
Myelencephalon8.68 ± 0.36
Occipital Lobe8.36 ± 0.33
Parietal Lobe8.66 ± 0.33
Pontine Tegmentum8.73 ± 0.31
Striatum8.42 ± 0.33
Subthalamus8.87 ± 0.06
Temporal Lobe8.85 ± 0.31
Thalamus8.59 ± 0.27
White Matter8.6 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Edf1CBCerebellum34.08
81.98
Edf1CTXCerebral cortex95.45
93.52
Edf1HIPHippocampal region90.77
100
Edf1HPFHippocampal formation94.03
100
Edf1HYHypothalamus71.62
74.82
Edf1LSXLateral septal complex36.62
31.7
Edf1MBMidbrain56.58
63.68
Edf1MYMedulla56.48
92.69
Edf1OLFOlfactory bulb82.72
100
Edf1PPons56.41
85.72
Edf1PALPallidum59.2
75.15
Edf1RHPRetrohippocampal region100
100
Edf1sAMYStriatum-like amygdalar nuclei75.72
74.8
Edf1STRStriatum49.68
45.95
Edf1STRdStriatum dorsal region40.41
35.47
Edf1STRvStriatum ventral region62.01
58.21
Edf1THThalamus94.77
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EDF1_HUMAN_133 13 133 145 GKDIGKPIEKGPR PRIDE
EDF1_HUMAN_135 11 135 145 DIGKPIEKGPR PRIDE
EDF1_HUMAN_2 12 2 13 AESDWDTVTVLR PRIDE
EDF1_HUMAN_60 19 60 78 LDRETEELHHDRVTLEVGK PRIDE
EDF1_HUMAN_98 15 98 112 INEKPQVIADYESGR PRIDE
PAp00034978 15 99 113 INEKPQVIADYESGR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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